Mechanism of alternative splicing of yeast HEH1 through competing 5' splice sites. [PDF]
Nat CommunBanyal AK +4 more
europepmc +1 more source
Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft. [PDF]
Hum MutatRanji P +7 more
europepmc +1 more source
Alternative Splicing: A Critical Regulator in Human Bone Biology and Tumor Progression. [PDF]
Research (Wash D C)Cao L +8 more
europepmc +1 more source
An overview of vital functions of human ecdysoneless (ECD), a highly conserved protein. [PDF]
Biosci RepLiu K, Cao X, Ma P, Qin A, Zhao J.
europepmc +1 more source
Recurrent mandibulofacial dysostosis, Guion-Almeida type in consecutive pregnancies due to maternal mosaicism of a novel EFTUD2 variant: a case report and review of the literature. [PDF]
J Med Case RepWang B, Hua C, Liu Q, Cai D.
europepmc +1 more source
Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities. [PDF]
BiomoleculesJiang Y, Liu X, Fu J, Wu Y, Yu S, Yao K.
europepmc +1 more source
Tip110 binding to U6 small nuclear RNA and its participation in pre-mRNA splicing [PDF]
, 2015 core +1 more source
Comprehensive Proteomic Profiling of Human Nav1.7-Interacting Proteins Reveals Conserved Regulatory Networks Involved in Nociceptive Signaling. [PDF]
Neurosci InsightsZhou X, Zhao J.
europepmc +1 more source
Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader-Willi and Angelman Syndromes: A Review. [PDF]
Int J Mol SciButler MG.
europepmc +1 more source